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Monosomy 9q22.3

1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1

Brachydactyly type A1

3 OMIM references -
2 associated genes
13 signs/symptoms

Monosomy 9q22.3

Brachydactyly type A1

PTCH1	(UniProt - OMIM)		GDF5	(UniProt - OMIM)
			IHH	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTCH1	(0.52)	IHH

Citations in the biomedical literature:

Monosomy 9q22.3		Brachydactyly type A1
	Synonym(s): - Microdeletion 9q22.3		Synonym(s): - Brachydactyly, Farabee type

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C537088

Monosomy 9q22.3		Brachydactyly type A1
	Very frequent - Epicanthic folds - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hyperactivity / attention deficit - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Macrocephaly / macrocrania / megalocephaly / megacephaly - Microstomia / little mouth - Pectus excavatum - Short neck - Strabismus / squint - Tall stature / gigantism / growth acceleration - Trigonocephaly - Umbilical hernia Frequent - Advanced bone age - Bifid / cleft ear lobe / ear lobe pits - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dilated cerebral ventricles without hydrocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hyperextensible joints / articular hyperlaxity - Kyphosis - Seizures / epilepsy / absences / spasms / status epilepticus - Thick / wide ear lobe		Very frequent - Autosomal dominant inheritance - Short big toe - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short stature / dwarfism / nanism - Thumb hypoplasia / aplasia / absence Frequent - Cone epiphyses / epiphysis Occasional - Clinodactyly of fifth finger - Metacarpal anomalies / Archibald's sign - Scoliosis - Symphalangy of fingers - Talipes-varus / metatarsal varus - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray